Details of Disease | DrugMAP

General Information of Disease (ID: DIS95FRP)

Disease Name	Coffin-Siris syndrome 1
Synonyms	CSS; mental retardation, autosomal dominant 12; COFFIN-SIRIS syndrome; fifth digit syndrome; CSS1; COFFIN-SIRIS syndrome 1; hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features; MRD12; Coffin-Siris syndrome 1; ARID1B-related BAFopathy; mental retardation, autosomal dominant type 12; intellectual disability, autosomal dominant 12; autosomal dominant mental retardation 12; hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features
Definition	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.
Disease Hierarchy	DIS8L03H: Coffin-Siris syndrome DISQTWXD: BAFopathy DIS3HIWD: Autosomal dominant disease DIS95FRP: Coffin-Siris syndrome 1
Disease Identifiers	MONDO ID MONDO_0007617 UMLS CUI C3281201 OMIM ID 135900 MedGen ID 482831

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMARCA4	TTVQEZS	Strong	Biomarker	[1]
SMARCA4	TTVQEZS	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DPF2	OTL0JH2C	Strong	CausalMutation	[3]
SMARCE1	OTAX4ITH	Strong	Autosomal dominant	[4]
ARID1A	OTRWDV3P	Definitive	Autosomal dominant	[2]
ARID1B	OTILK3Q7	Definitive	Autosomal dominant	[5]
SMARCA2	OTSGJ8SV	Definitive	Autosomal dominant	[4]
SMARCA4	OT68WOPQ	Definitive	Autosomal dominant	[2]
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⏷ Show the Full List of 6 DOT(s)

References

1	Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010 Feb 12;86(2):279-84. doi: 10.1016/j.ajhg.2010.01.013. Epub 2010 Feb 4.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3	Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j.ajhg.2018.01.014. Epub 2018 Feb 8.
4	Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.
5	The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8.